Associated Papers
Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome.
Nitoiu A et al.
Human Molecular Genetics, 2025
40273360 (PubMed )
Supplement: supplementary_data_april7_ddaf058.docx
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL et al.
Journal of Medical Genetics, 2017
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J et al.
Clinical Genetics, 2016
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